{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580564467",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 393,
          "referenceAllele": "A",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003364",
      "geneNCBI_id": 954,
      "geneSymbol": "ENTPD2",
      "hgvs": [
        "NP_982293.1:p.Ala393Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA375651735",
          "hgvs": "NM_203468.3:c.1177G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185737"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2231251[alleleid]",
        "alleleId": 2231251,
        "preferredName": "NM_203468.3(ENTPD2):c.1177G>T (p.Ala393Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2234464",
        "RCV": [
          "RCV004094448"
        ],
        "variationId": 2234464
      }
    ]
  },
  "type": "amino-acid"
}